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Abstract
The clinical severity of thalassemia major makes it a priority genetic disease for prevention programs involving population screening of heterozygotes and optional prenatal diagnosis for carrier couples.
In Egypt, it represents the commonest cause of chronic hemolytic anemia, in children accounting for about 85% of cases with a gene frequency of 1.3-10.2%. Therefore, it is one of the major health problems in Egypt. So rapid genotype characterization is fundamental in the diagnostic laboratory, especially when offering prenatal diagnosis for carrier couples.
The commonest mutations encountered in Egypt were in order of frequency: IVSI-110, followed by IVSI-1 then IVSI-6 and a relatively less common set of mutations including IVSII-1, codon 39 and IVSII-745.